scholarly journals Circulating LncRNAs as Novel, Non-Invasive Biomarkers for Prenatal Detection of Fetal Congenital Heart Defects

2016 ◽  
Vol 38 (4) ◽  
pp. 1459-1471 ◽  
Author(s):  
Meng Gu ◽  
Aibin Zheng ◽  
Wenjuan Tu ◽  
Jing Zhao ◽  
Lin Li ◽  
...  

Objectives: To explore the clinical value of circulating long non-coding RNAs (lncRNAs) as biomarkers to predict fetal congenital heart defects (CHD) in pregnant women. Methods: Differential expression of lncRNAs isolated from the plasma of pregnant women with typical fetal CHD or healthy controls was analyzed by microarray. Gene ontology (GO), pathway and network analysis were performed to study the function of the lncRNAs. Differentially expressed lncRNAs were validated in plasma samples from 62 pregnant women with typical CHD and 62 matched controls by RT-PCR. The sensitivity and specificity of each lncRNA in the diagnosis of fetal CHD was determined by ROC curve analysis. Results: Microarray analysis identified 3694 up-regulated and 3919 down-regulated (fold change ≥2.0) lncRNAs. The top ten significantly differentially expressed, CHD-associated lncRNAs were validated by RT-PCR. Five significantly up-regulated or down-regulated lncRNAs were identified: ENST00000436681, ENST00000422826, AA584040, AA709223 and BX478947 with the AUC of ROC curves calculated as 0.892, 0.817, 0.755, 0.882 and 0.886, respectively. Conclusions: Specific lncRNAs aberrantly expressed in the plasma of pregnant women with typical fetal CHD may play a key role in the development of CHD and may be used as novel biomarkers for prenatal diagnosis of fetal CHD.

2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Lauren E. Schlichting ◽  
Tabassum Insaf ◽  
George Lui ◽  
Ali Zaidi ◽  
Alissa Van Zutphen

2020 ◽  
Vol 19 (6) ◽  
pp. 70-82
Author(s):  
L.A. Rudyuk ◽  
◽  
O.S. Reshetnikova ◽  

In this review, we perform clinical and morphological analysis of the mechanisms underlying adaptation of the human placenta to hypoxia in the fetoplacental complex in pregnant women with congenital heart defects (CHDs). We assessed specific characteristics of macroscopic and microscopic structure of the placenta in women with this extragenital pathology. We descried morphological involutive dystrophic and compensatory mechanisms that develop in the placenta of women with impaired hemodynamics. We proposed molecular markers, whose investigation will clarify functional state of the placental barrier and ways of remodeling vascular-stromal components of the villous chorion. Potential risks associated with circulatory hypoxia in the mother-placenta-fetus system should be taken into account in the management of pregnant women with CHDs. Detection of placental maladaptation signs in mothers with CHDs will help to identify the risk group of newborns, organize preventive therapy, prophylaxis of diseases, health improvement, and treatment of newborns. Key words: compensatory and adaptive processes, hypoxia, immunohistochemistry, morphology, placenta


Author(s):  
Karrie F. Downing ◽  
Naomi K. Tepper ◽  
Regina M. Simeone ◽  
Elizabeth C. Ailes ◽  
Michelle Gurvitz ◽  
...  

Background In women with congenital heart defects (CHD), changes in blood volume, heart rate, respiration, and edema during pregnancy may lead to increased risk of adverse outcomes and conditions. The American Heart Association recommends providers of pregnant women with CHD assess cardiac health and discuss risks and benefits of cardiac-related medications. We described receipt of American Heart Association–recommended cardiac evaluations, filled potentially teratogenic or fetotoxic (Food and Drug Administration pregnancy category D/X) cardiac-related prescriptions, and adverse conditions among pregnant women with CHD compared with those without CHD. Methods and Results Using 2007 to 2014 US healthcare claims data, we ascertained a retrospective cohort of women with and without CHD aged 15 to 44 years with private insurance covering prescriptions during pregnancy. CHD was defined as ≥1 inpatient code or ≥2 outpatient CHD diagnosis codes >30 days apart documented outside of pregnancy and categorized as severe or nonsevere. Log-linear regression, accounting for multiple pregnancies per woman, generated adjusted prevalence ratios (aPRs) for associations between the presence/severity of CHD and stillbirth, preterm birth, and adverse conditions from the last menstrual period to 90 days postpartum. We identified 2056 women with CHD (2334 pregnancies) and 1 374 982 women without (1 524 077 pregnancies). During the last menstrual period to 90 days postpartum, 56% of women with CHD had comprehensive echocardiograms and, during pregnancy, 4% filled potentially teratogenic or fetotoxic cardiac-related prescriptions. Women with CHD, compared with those without, experienced more adverse conditions overall (aPR, 1.9 [95% CI, 1.7–2.1]) and, specifically, obstetric (aPR, 1.3 [95% CI, 1.2–1.4]) and cardiac conditions (aPR, 10.2 [95% CI, 9.1–11.4]), stillbirth (aPR, 1.6 [95% CI, 1.1–2.4]), and preterm delivery (aPR, 1.6 [95% CI, 1.4–1.8]). More women with severe CHD, compared with nonsevere, experienced adverse conditions overall (aPR, 1.5 [95% CI, 1.2–1.9]). Conclusions Women with CHD have elevated prevalence of adverse cardiac and obstetric conditions during pregnancy; 4 in 100 used potentially teratogenic or fetotoxic medications, and only half received an American Heart Association–recommended comprehensive echocardiogram.


Congenital heart defects are a heterogeneous group of diseases that occur as isolation or a part of multiple birth defects, gene disorders or chromosomal abnormalities. Chromosomal abnormalities and its underlying syndromes are the cause of 6 to 36% of cases of congenital heart defects. Monogenic etiology is proven in about 8% of cases, and the main group - about 90% of the congenital heart defects is the result of an unfavorable combination of genetic predisposition and external factors. The causes of early neonatal infant mortality are dominated by incompatible birth defects: almost 26% of perinatal and neonatal deaths are associated with congenital child pathology. Heart defects compose about 30% of all birth defects. They rank first place among the diseases that lead to perinatal mortality and early disability. World statistics show that the incidence of birth defects in the world is 9 per 1000 newborns, in Europe - 8/1000, which is 4 times more frequent than neural tube defects and 6 times higher than chromosomal abnormalities. In Ukraine, about 5,000 children with congenital heart defects are born each year, and the total number of those children on dispensary records reaches more than 45,000. Knowledge about the prevalence of birth defects in the region is needed to develop new information markers of the risk of congenital pathology of the circulatory system for women of reproductive age. Data on the incidence of congenital heart defects of fetuses and newborns in the region will allow the creation of a database for follow-up studies, which will facilitate the timely identification of pregnant women at risk. This will improve the prognosis of pregnancy, reduce the level of perinatal pathology, which will have a significant medical and social effect. The data obtained will allow to create preconditions for improvement of approaches to the definition of risk groups of perinatal pathology, perfection of specialized care for pregnant women with risk of congenital heart defects of the fetus.


2013 ◽  
Vol 0 (12) ◽  
pp. 42
Author(s):  
Ю. В. Давыдова ◽  
Л. Г. Воронков ◽  
І. В. Чібісова ◽  
А. Ю. Лиманська ◽  
О. М. Мокрик ◽  
...  

2018 ◽  
pp. 31-34
Author(s):  
A.O. Ogorodnyk ◽  
◽  
А.Yu. Limanskaya ◽  
L.P. Butenko ◽  
Iu.V. Davydova ◽  
...  

Author(s):  
Jiaomei Yang ◽  
Yijun Kang ◽  
Yue Cheng ◽  
Lingxia Zeng ◽  
Hong Yan ◽  
...  

Limited studies investigating the relationships between dietary patterns and congenital heart defects (CHDs) are available. This study aimed to explore the associations between dietary patterns and CHDs risk in Shaanxi, China. We conducted a hospital-based case-control study and included a total of 474 cases and 948 controls. Pregnant women waiting for delivery in the hospital were interviewed to report their diets during pregnancy using a validated food frequency questionnaire. Dietary patterns were derived using principal component factor analysis. Mixed logistic regression models were used to assess the associations between dietary patterns and CHDs. Pregnant women in the highest tertile of the prudent pattern had a lower risk of CHDs compared to those in the lowest tertile (OR = 0.65, 95%CI: 0.48–0.89). Pregnant women with high scores on the vegetarian pattern were at an increased risk of CHDs (medium vs. lowest tertile: OR = 1.50, 95%CI = 1.03–2.17; highest vs. lowest tertile: OR = 1.56, 95%CI = 1.13–2.15; ptrend = 0.015). Pregnant women with high scores on the dairy and egg pattern were at a reduced risk of CHDs (medium vs. lowest tertile: OR = 0.66, 95%CI = 0.49–0.90; highest vs. lowest tertile: OR = 0.60, 95%CI = 0.43–0.82; ptrend = 0.001). Maternal diet during pregnancy is an important target for intervention, and it may influence the likelihood of developing CHDs.


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